NORD gratefully acknowledges François Lagacé, MD, CM Candidate, McGill University School of Medicine, and Heidi Jacobe, MD, MSCS, Associate Professor, Department of Dermatology, UT Southwestern Medical Center, for assistance in the preparation of this report.
Lichen sclerosus is a chronic inflammatory skin disorder that most commonly affects women before puberty or after menopause. Although rare, it can also be seen in men. When found in males, the disease is known as balanitis xerotica obliterans.
Lichen sclerosus is characterized by skin changes of the external genitalia. The most common distribution is a figure of 8 involving the vulva and perianal area. The head of the penis and other parts of the body may also be affected. In fact, this skin condition can affect any skin surface. Some patients with lichen sclerosus do not have any symptoms, whereas others experience intense itching, discomfort and/or erosions/ulcers. Lichen sclerosus typically has a remitting relapsing course that is complicated by permanent scarring of the affected areas. This produces functional problems such as difficulty in urination, defecation, and intercourse for affected women and difficulty in urination or with erections in men. The disorder is not contagious nor is it a sexually transmitted disease.
Current research supports that it is caused by a combination of a dysfunction of the immunological system and genetic factors. The understanding of the causes of this disorder is still incomplete. The mainstay of treatment is potent topical steroids in the case of genital involvement in women. Studies have shown that regular use of potent topical steroids in women prevents the problems of scarring and decreases risk of skin cancer developing in the area of lichen sclerosus. Potent topical steroids are also a first line treatment for other areas affected by lichen sclerosus. Pelvic floor therapy, surgical intervention to address scarring (such as circumcision in men), and in some cases oral immunosuppressive medicines may also be used. Because lichen sclerosus is associated with increased risk of squamous cell carcinoma in women with genital involvement, it is important for those affected to have life long screening examinations as well as continued treatment to keep the disorder under control.
Lichen sclerosus usually affects the external genitalia (vulva or penis) and/or the area around the anus (perianal region). Sometimes, it is accompanied by intense (intractable) itching, burning, and pain. If the disease is severe, even minor abrasions or chaffing can cause bleeding, tearing, and blistering. The scarring that results from untreated lichen sclerosus produces problems with urination, defecation, and intercourse. The presence of thin, easily irritated, and torn skin affects physical activity and clothing choice.
For children with lichen sclerosus affecting the perianal region, constipation may be among the first signs of the presence of the disease. Lichen sclerosus is much more likely to affect males that have not been circumcised than males that have been.
Rarely, lichen sclerosus can also affect other areas of the skin such as the breast, wrists, shoulder, neck, back, thigh, and the mouth.
Skin tissue often becomes thin, shiny, wrinkled and parchment-like. Fissures, cracks, and purplish patches (ecchymoses) appear frequently. The earliest areas of lichen sclerosus exhibit a porcelain white appearing center surrounded by redness. This grows together to form larger areas of lichen sclerosus. The areas that are prone to rubbing and friction can develop blisters or bruising. The long term result of lichen sclerosus are areas of shiny, thin skin that has a tendency to be dry, crack, or bleed. This also produces loss of the normal parts of the external genitals, narrowing of the opening of the urerthra/vagina/anus, and phimosis (inability to retract the foreskin) in men. The presence of non-healing ulcers or raised ulcerated areas in the external genitalia of women raises suspicion for the development of squamous cell carcinoma.
In males, lichen sclerosus most commonly affects the foreskin of the penis, although it may affect other areas of the body. The opening at the end of the foreskin may become narrow and scarred. Discoloration and skin changes may also occur. Symptoms also include itching, soreness, and painful erections. In men, involvement in the perineal area is rare.
In some rare cases, skin lesions may also develop in the mouth. The lesions consist of bluish-white flat irregular patchy areas on the inside of the cheeks and/or palate. The tongue, lips, and gums may also be involved.
The exact cause of lichen sclerosus is not known. Most research indicates it is an autoimmune condition. Autoimmune disorders arise when the body’s natural defenses against “foreign” or invading organisms (e.g., antibodies) begin to attack healthy tissue for unknown reasons. Some cases of lichen sclerosus may be linked to formation of certain antibodies (e.g. a thyroid protein (thyroglobulin), or certain cells that line the walls of organs).
Some scientists believe that a genetic predisposition to lichen sclerosus exists. A genetic predisposition means that a person may carry a gene for a disease but it may not be expressed unless something in the environment triggers the disease. Other researchers believe that hormonal, irritant and/or infectious factors (or a combination of these) cause this skin condition. Cases where lichen sclerosus appears on skin after it has been damaged (from an injury or trauma) have been reported.
Recent research suggests that the most probable cause of lichen sclerosus is an autoimmune reaction in genetically predisposed individuals.
Lichen sclerosus affects mostly females, usually between the ages of 40 and 60 years. Females are six times as likely to be affected as are males. Younger females and males have also been identified in the medical literature in the United States. Female children under the age of thirteen have also been reported with the condition.
Lichen sclerosus is diagnosed by looking at the skin affected. All those affected require a thorough clinical evaluation, identification of characteristic physical features, and a detailed patient history. There should be focus on the functional impact of the lichen sclerosus and treatment to date, including over the counter products that might be applied. In order to be sure of the diagnosis, a skin biopsy may be needed. Biopsies may also be performed if squamous cell carcinoma is suspected.
Vulvar lichen sclerosus requires aggressive treatment and life long monitoring to avert scarring and minimize risk of squamous cell carcinoma. Treatment consists of the use of one or another of the ultrapotent corticosteroids that are available by prescription, and should be used as an ointment (use of creams is discouraged). Ultrapotent corticosteroids available in the United States include: betamethasone diproprionate, clobetasol propionate, diflorasone diacetate, and halobetasol propionate. These drugs may stop the itching within days or a couple of weeks. Within a few months of regular use, they may make it possible for skin to regain its strength and texture, but they cannot affect scarring or changes in skin color that may already have taken place. Current recommendations are to use the steroid ointment twice a day for several weeks until in remission and then taper down to a long term maintenance regimen with use of the steroid ointment a few times a week. Patients’ providers should give them detailed instructions on where to apply the ointment and how to apply it. Often, photos are taken to help track improvement and monitor for change. It is critical for women to have life long follow up with a provider familiar with lichen sclerosus for ongoing monitoring of treatment and surveillance for squamous cell carcinoma.
Treatment in men is not well studied. In those who are not circumcised, circumcision can by curative. Otherwise, potent topical steroid ointments are also recommended. The same is true of extragenital lesions. The link with squamous cell carcinoma has not been demonstrated in men or in extragenital lesions, so long term follow-up is recommended mainly to maintain control of the lichen sclerosus, but the risk of cancer appears to be very low in men.
Second line treatments include topical tacrolimus or pimecrolimus, phototherapy, and systemic (oral) immunosuppressive medications. In very severe cases, surgical removal of affected skin layers may be of benefit. In males, circumcision may be helpful (if the foreskin is involved). It is usually reserved for individuals who have scarring that causes functional impairment.
For lichen sclerosus that is not located in the genital area, potent topical corticosteroids are the first-line treatment. Other options include phototherapy, systemic steroids, and rarely, systemic immunosuppressive therapy.
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Goldman BD. Lichen Sclerosis. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:126.
Questions and Answers About Lichen Sclerosus. NIAMS. Publication Date: 11/30/2014.https://www.niams.nih.gov/health-topics/lichen-sclerosus Accessed Feb. 5, 2019.
Cooper SM and Arnold SJ. Patient Education: Lichen Sclerosus (Beyond the Basics). UpToDate. Review Date: Aug 24, 2018. https://www.uptodate.com/contents/lichen-sclerosus-beyond-the-basics Accessed Feb. 5, 2019.
Jacobe H. Extragenital Lichen Sclerosus. UpToDate. Review Date: Nov 29, 2018. https://www.uptodate.com/contents/extragenital-lichen-sclerosus?search=extragenital-lichen-sclerosu&source=search_result&selectedTitle=1~6&usage_type=default&display_rank=1 Accessed Feb. 5, 2019.
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